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Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.
Ries, Markus; Mendoza, Grecia; Arash-Kaps, Laila; Amraoui, Yasmina; Quack, Folker; Hardt, Brigitte; Diederich, Stefan; Beck, Michael; Mengel, Eugen.
Afiliação
  • Ries M; Pediatric Neurology and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany; Center for Virtual Patients, Heidelberg Faculty of Medicine, Heidelberg, Ger
  • Mendoza G; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.
  • Arash-Kaps L; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.
  • Amraoui Y; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.
  • Quack F; Hand in Hand against Tay-Sachs and Sandhoff disease in Germany, Höchberg, Germany.
  • Hardt B; Hand in Hand against Tay-Sachs and Sandhoff disease in Germany, Höchberg, Germany.
  • Diederich S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Beck M; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.
  • Mengel E; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.
Genet Med ; 24(12): 2434-2443, 2022 12.
Article em En | MEDLINE | ID: mdl-36194207
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tay-Sachs / Gangliosidoses / Gangliosidoses GM2 Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tay-Sachs / Gangliosidoses / Gangliosidoses GM2 Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article